Patau Syndrome
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13. This condition leads to severe intellectual disability and physical abnormalities, including heart defects, cleft lip or palate, and extra fingers or toes. Most affected individuals have a short life expectancy, often living only a few days to weeks after birth.
Diagnosis typically occurs through prenatal screening or genetic testing. While there is no cure for Patau Syndrome, supportive care can help manage symptoms and improve quality of life. Early intervention and specialized medical care are essential for affected infants and their families.